RGD:9687644 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:9687644 -  Homo sapiens

RGD ID: 9687644
RS ID: rs202246404
ClinVar ID: CV174089
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GSDME  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 24,758,849
GRCh38 7 24,719,230
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011593.1:g.43791T>C
NC_000007.14:g.24719230A>G
NC_000007.13:g.24758849A>G
NM_001127454.2:c.-88-12T>C
More... 		01/12/2018 intron variant benign|likely benign AllHighlyPenetrant; Deafness, autosomal dominant 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GSDME
Accession:XM_017011802
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_001127454
Location:5UTRS;INTRON

Gene Symbol:GSDME
Accession:NM_001127453
Location:INTRON

Gene Symbol:GSDME
Accession:NM_004403
Location:INTRON

Gene Symbol:GSDME
Accession:XM_024446670
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150387 CLINVAR
  RCV000352584 CLINVAR
  RCV001534180 CLINVAR
dbSNP (RS) rs202246404 CLINVAR
MedGen C1832932 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DFNA5 CLINVAR
OMIM 600994 CLINVAR
  608798 CLINVAR